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We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify SVs 3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genom...
ORGANISM(S): Homo sapiens 
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Cancer is driven by mutation. Using Agilent exome hybridisation capture and Illumina GA massively parallel sequencing technology, we aim to sequence ~1600 microRNAs plus the protein coding genome of 25 matched human renal cancer samples. Bespoke algorithms are being developed to identify the somatic...
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells
Mitochondrial genomes are separated from the nuclear genome for most of the cell cycle by the nuclear double membrane, intervening cytoplasm and the mitochondrial double membrane. Despite these physical barriers we show that somatically acquired mitochondrial-nuclear genome fusion sequences are pres...
We conducted comparative genome hybridization experiments to catalogue the common copy number variation evident between 269 individuals from three geographically distinct human populations (Yoruban, Chinese/Japanese, European) against a single reference individual.
ORGANISM(S): Homo sapiens 
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